Canonical Allele Identifier: CA414524861

Gene: IDS

Linked Data

• gnomAD v4: X-149503216-G-A
• MyVariant Identifiers: chrX:g.148584746G>A (hg19) ; chrX:g.149503216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503216G>A , CM000685.2:g.149503216G>A	GRCh38
NC_000023.10:g.148584746G>A , CM000685.1:g.148584746G>A	GRCh37
NC_000023.9:g.148392651G>A	NCBI36
NG_011900.3:g.7119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.418+96C>T MANE Select	ENSP00000339801.6:n.418+96C>T
ENST00000651111.1:c.-215-2179C>T	ENSP00000498395.1:n.-215-2179C>T
ENST00000340855.10:c.418+96C>T	ENSP00000339801.6:n.418+96C>T
ENST00000370441.8:c.418+96C>T	ENSP00000359470.4:n.418+96C>T
ENST00000422081.6:c.-215-2179C>T	ENSP00000477056.1:n.-215-2179C>T
ENST00000427113.2:n.770-993C>T
ENST00000428056.6:c.514C>T	ENSP00000390241.2:p.Leu172Phe
ENST00000441880.1:n.114-16118C>T
ENST00000464251.5:c.241+96C>T	ENSP00000428980.1:n.241+96C>T
ENST00000466323.5:c.418+96C>T	ENSP00000418264.1:n.418+96C>T
ENST00000490775.5:n.77+96C>T
ENST00000523759.5:n.533-2179C>T
NM_000202.6:c.418+96C>T	NP_000193.1:n.418+96C>T
NM_001166550.2:c.148+96C>T	NP_001160022.1:n.148+96C>T
NM_006123.4:c.418+96C>T	NP_006114.1:n.418+96C>T
NR_104128.1:n.635+96C>T
NM_000202.7:c.418+96C>T	NP_000193.1:n.418+96C>T
NM_001166550.3:c.148+96C>T	NP_001160022.1:n.148+96C>T
NM_000202.8:c.418+96C>T MANE Select	NP_000193.1:n.418+96C>T
NM_001166550.4:c.148+96C>T	NP_001160022.1:n.148+96C>T
NM_006123.5:c.418+96C>T	NP_006114.1:n.418+96C>T
NR_104128.2:n.587+96C>T